| A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration. | A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration.
Ren H, Li Y, Liu H, Fan J, Li J, Li H, Wei H, Meng L, Cao S., Free PMC Article | 05/19/2023 |
| Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients. | Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.
Zheng XX, You YX, Zhao LL, Du Y, Xu SQ, Tang DQ. | 03/15/2023 |
| Exploring the Genetic Association of the ABAT Gene with Alzheimer's Disease. | Exploring the Genetic Association of the ABAT Gene with Alzheimer's Disease.
Zheng Q, Bi R, Xu M, Zhang DF, Tan LW, Lu YP, Yao YG. | 11/22/2021 |
| ABAT SNP rs1641025 is a potential candidate locus for responsiveness to opioid analgesics in patients with cancer pain. | Gamma-aminobutyric acid transaminase genetic polymorphism is a candidate locus for responsiveness to opioid analgesics in patients with cancer pain: An exploratory study.
Yokoshima Y, Sumitani M, Nishizawa D, Nagashima M, Ikeda K, Kato R, Hozumi J, Abe H, Azuma K, Tsuchida R, Yamada Y, Japanese TR-Cancer Pain Research Group., Free PMC Article | 09/21/2019 |
| This study utilized ER+ IBC to identify a metagene including ABAT and STC2 as predictive biomarkers for endocrine therapy resistance. | Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease.
Jansen MP, Sas L, Sieuwerts AM, Van Cauwenberghe C, Ramirez-Ardila D, Look M, Ruigrok-Ritstier K, Finetti P, Bertucci F, Timmermans MM, van Deurzen CH, Martens JW, Simon I, Roepman P, Linn SC, van Dam P, Kok M, Lardon F, Vermeulen PB, Foekens JA, Dirix L, Berns EM, Van Laere S., Free PMC Article | 02/13/2016 |
| A-to-G transition at nucleotide 754 of the human ABAT gene identified in lymphoblast cDNA (c.754A>G) results in substitution of an invariant arginine at amino acid 220 by lysine (p.Arg220Lys). This point mutation results in destabilization of the binding of pyridoxal-5'-phosphate to GABA-transaminase (required for transamination of GABA to succinic semialdehyde) and thus results in GABA-transaminase deficiency. | Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
Parviz M, Vogel K, Gibson KM, Pearl PL., Free PMC Article | 07/20/2015 |
| Findings point to a possible role of ABAT gene-regulated GABA catabolism for an altered processing of somatosensory stimuli as a potential vulnerability marker for affective disorders. | Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders.
Wegerer M, Adena S, Pfennig A, Czamara D, Sailer U, Bettecken T, Müller-Myhsok B, Modell S, Ising M. | 12/28/2013 |
| direct involvement of ABAT in pathways affecting lower esophageal sphincter (LES) control in gastro esophageal reflux disease | 4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.
Jirholt J, Asling B, Hammond P, Davidson G, Knutsson M, Walentinsson A, Jensen JM, Lehmann A, Agreus L, Lagerström-Fermer M., Free PMC Article | 08/27/2011 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
Jia P, Wang L, Meltzer HY, Zhao Z., Free PMC Article | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| excessive prenatal GABA exposure in the central nervous system (CNS) is responsible for the clinical manifestations of GABA transaminase deficiency [case report] | A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
Tsuji M, Aida N, Obata T, Tomiyasu M, Furuya N, Kurosawa K, Errami A, Gibson KM, Salomons GS, Jakobs C, Osaka H., Free PMC Article | 05/31/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M, Tokunaga K. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.
Inada T, Koga M, Ishiguro H, Horiuchi Y, Syu A, Yoshio T, Takahashi N, Ozaki N, Arinami T. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia.
Zhang B, Yuan Y, Jia Y, Yu X, Xu Q, Shen Y, Shen Y. | 03/13/2008 |
| lysine 357 is essential for catalytic function of brain GABA transaminase, and is involved in binding PLP at the active site | Site-directed mutagenesis of human brain GABA transaminase: lysine-357 is involved in cofactor binding at the active site.
Kim DW, Yoon CS, Eum WS, Lee BR, An JJ, Lee SH, Lee SR, Ahn JY, Kwon OS, Kang TC, Won MH, Cho SW, Lee KS, Park J, Choi SY. | 01/21/2010 |
| Analysis of the autistic disorder susceptibility locus suggests an association on chromosome 16p between GRIN2A and ABAT. | Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R, Lamb J, Bailey AJ, Monaco AP, International Molecular Genetics Study of Autism Consortium., Free PMC Article | 01/21/2010 |
| results suggest that the Cys321 residue is essential for the catalytic function of GABAT, and that it is involved in the formation of a disulfide link between two monomers of human brain GABAT | Cysteine-321 of human brain GABA transaminase is involved in intersubunit cross-linking.
Yoon CS, Kim DW, Jang SH, Lee BR, Choi HS, Choi SH, Kim SY, An JJ, Kwon OS, Kang TC, Won MH, Cho SW, Lee KS, Park J, Eum WS, Choi SY. | 01/21/2010 |
| Marked differences in platelet uptake of GABA and activity of catabolic enzyme GABA-T between patients with generalized and localization-related epileptic syndromes. May indicate an impairment in function of brain GABAergic systems. | Uptake of GABA and activity of GABA-transaminase in platelets from epileptic patients.
Rainesalo S, Saransaari P, Peltola J, Keränen T. | 01/21/2010 |